A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027654



Internal ID19291517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:25195271..25230706hg38UCSC Ensembl
Outerchr3:25190947..25235849hg38UCSC Ensembl
Innerchr3:25236762..25272197hg19UCSC Ensembl
Outerchr3:25232438..25277340hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3844903
hg1944903
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160923
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nssv4027654
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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